Product Details

SNP ID

rs145405642

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:28573819 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGGCATTGAGTGCAGAGGCTTGCAG[C/G]GCACGCCCATAGGAGAAGGTAAGCG

Phenotype

MIM: 103870 MIM: 610271 MIM: 615562

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

ALDOC PubMed Links

Gene Details

Gene

ALDOC

Gene Name

aldolase, fructose-bisphosphate C

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_005165.2	1060	Silent Mutation	GCC,GCG	A305A	NP_005156.1
XM_005257949.2	1060	Silent Mutation	GCC,GCG	A305A	XP_005258006.1
XM_011524556.1	1060	Silent Mutation	GCC,GCG	A305A	XP_011522858.1

Gene

PIGS

Gene Name

phosphatidylinositol glycan anchor biosynthesis class S

There are no transcripts associated with this gene.

Gene

SPAG5

Gene Name

sperm associated antigen 5

There are no transcripts associated with this gene.

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